A novel mutation in the bovine &amp;lt;i&amp;gt;EDA&amp;lt;/i&amp;gt; gene causing anhidrotic ectodermal dysplasia (Brief report)

Drögemüller, Cord; Barlund, Christy S.; Palmer, Colin W.; Leeb, Tosso

doi:10.5194/aab-49-615-2006

Cited by 4 publications

(6 citation statements)

References 8 publications

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“…In cattle, three different mutations in EDA have been described: one nonsense mutation (R244X); one deletion including exon 3; and one intronic point mutation disrupting correct splicing (Drogemuller et al 2001(Drogemuller et al , 2002b(Drogemuller et al , 2006Barlund et al 2007). Single-base substitutions, indels, longer deletions and translocations are all included in this multitude of mutations.…”

Section: Introductionmentioning

confidence: 99%

“…Single-base substitutions, indels, longer deletions and translocations are all included in this multitude of mutations. In cattle, three different mutations in EDA have been described: one nonsense mutation (R244X); one deletion including exon 3; and one intronic point mutation disrupting correct splicing (Drogemuller et al 2001(Drogemuller et al , 2002b(Drogemuller et al , 2006Barlund et al 2007).…”

Section: Introductionmentioning

confidence: 99%

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Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Karlskov-Mortensen¹,

Cirera²,

Nielsen³

et al. 2011

Animal Genetics

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A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Karlskov-Mortensen¹,

Cirera²,

Nielsen³

et al. 2011

Animal Genetics

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“…The genetic transmission of this disease in cattle was described by Drögemüller and collaborators [ 5 ], who found a deletion of the whole exon 3 of EDA gene in an affected German Holstein calves and proposed to use for the bovine disease the name of the homologous human syndrome. The same authors subsequently described a G/T mutation at the beginning of intron 8 that leads to a defect in splicing and an in-frame protein deletion of 51 or 45 base pairs with respect to the EDA1 and EDA2 transcripts [ 11 ] and a C/T SNP at position 24 of exon 6 that causes a nonsense mutation of arginine (R) into a stop codon (X) [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia

2011

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BackgroundX-linked anhidrotic ectodermal dysplasia is a disorder characterized by abnormal development of tissues and organs of ectodermal origin caused by mutations in the EDA gene. The bovine EDA gene encodes the ectodysplasin A, a membrane protein expressed in keratinocytes, hair follicles and sweat glands, which is involved in the interactions between cell and cell and/or cell and matrix. Four mutations causing ectodermal dysplasia in cattle have been described so far.ResultsWe identified a new single nucleotide polymorphism (SNP) at the 9th base of exon 8 in the EDA gene in two calves of Holstein Friesian cattle breed affected by ectodermal dysplasia. This SNP is located in the exonic splicing enhancer (ESEs) recognized by SRp40 protein. As a consequence, the spliceosome machinery is no longer able to recognize the sequence as exonic and causes exon skipping. The mutation determines the deletion of the entire exon (131 bp) in the RNA processing, causing a severe alteration of the protein structure and thus the disease.ConclusionWe identified a mutation, never described before, that changes the regulation of alternative splicing in the EDA gene and causes ectodermal dysplasia in cattle. The analysis of the SNP allows the identification of carriers that can transmit the disease to the offspring. This mutation can thus be exploited for a rational and efficient selection of unequivocally healthy cows for breeding.

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“…This applies to the skin and its appendages, i.e. hair and nails, as well as all superficial glands that may be missing or maldeveloped [ 8 , 9 ]. Affected animals have a sparse, usually lightened coat, malformed or missing teeth, and cannot regulate their body temperature by sweating (hypohidrosis) [ 1 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses

Krull,

Bleyer,

Schäfer

et al. 2024

PLoS ONE

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Ectodysplasin A related hypohidrotic ectodermal dysplasia (XLHED) is a well-studied fetal developmental disorder in mammals that mainly affects ectodermal structures. It has been identified in a variety of species, including mice, rats, dogs, cattle, and humans. Here, we report the clinical, histological, and molecular biological analyses of a case of XLHED in Limousin cattle. An affected Limousin calf showed pathognomonic signs of ectodermal dysplasia, i.e. sparse hair and characteristic dental aplasia. Histopathologic comparison of hairy and glabrous skin and computed tomography of the mandible confirmed the phenotypic diagnosis. In addition, a keratoconjunctivitis sicca was noted in one eye, which was also confirmed histopathologically. To identify the causative variant, we resequenced the bovine X-chromosomal ectodysplasin A gene (EDA) of the affected calf and compared the sequences to the bovine reference genome. A single missense variant (rs439722471) at position X:g.80411716T>C (ARS-UCD1.3) was identified. The variant resulted in an amino acid substitution from glutamic acid to glycine within the highly conserved TNF-like domain. To rule out the possibility that the variant was relatively common in the cattle population we genotyped 2,016 individuals including 40% Limousin cattle by fluorescence resonance energy transfer analysis. We also tested 5,116 multibreed samples from Run9 of the 1000 Bull Genomes Project for the said variant. The variant was not detected in any of the cattle tested, confirming the assumption that it was the causative variant. This is the first report of Ectodysplasin A related hypohidrotic ectodermal dysplasia in Limousin cattle and the description of a novel causal variant in cattle.

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A novel mutation in the bovine <i>EDA</i> gene causing anhidrotic ectodermal dysplasia (Brief report)

Cited by 4 publications

References 8 publications

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses

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